Table 1.
TSC2 mutations in LAM-associated angiomyolipomas
| Patient | TSC1LOH | TSC2LOH | Nucleotide alteration* | Effect of mutation | Location |
|---|---|---|---|---|---|
| 367 | − | + | |||
| 487 | − | + | G→T at 1096 | Glu→Stop at 366 | Exon 10 |
| 489 | − | − | |||
| 490 | − | + | 2061-2073 del | Ser fs→Stop at 693 | Exon 18 |
| 491 | − | − | 529→532 del | Leu fs→Stop at 180 | Exon 5 |
| 621 | − | + | G→A at 1832 | Arg→Gln at 611 | Exon 16 |
| 651 | − | + | G→A at 1832 | Arg→Gln at 611 | Exon 16 |
+, LOH was present in the angiomyolipoma; −, LOH was not present.
*No mutation was found in the angiomyolipomas from patients 367 and 489.